rs777735526
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs777735526(A;A) |
Make rs777735526(A;C) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 2 |
Position | 218661434 |
Gene | BCS1L, ZNF142 |
is a | snp |
is | mentioned by |
dbSNP | rs777735526 |
dbSNP (classic) | rs777735526 |
ClinGen | rs777735526 |
ebi | rs777735526 |
HLI | rs777735526 |
Exac | rs777735526 |
Gnomad | rs777735526 |
Varsome | rs777735526 |
LitVar | rs777735526 |
Map | rs777735526 |
PheGenI | rs777735526 |
Biobank | rs777735526 |
1000 genomes | rs777735526 |
hgdp | rs777735526 |
ensembl | rs777735526 |
geneview | rs777735526 |
scholar | rs777735526 |
rs777735526 | |
pharmgkb | rs777735526 |
gwascentral | rs777735526 |
openSNP | rs777735526 |
23andMe | rs777735526 |
SNPshot | rs777735526 |
SNPdbe | rs777735526 |
MSV3d | rs777735526 |
GWAS Ctlg | rs777735526 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs777735526(A;A) rs777735526(T;T) |
Alt | rs777735526(A;A) rs777735526(T;T) |
Reference | Rs777735526(C;C) |
Significance | Probable-Pathogenic |
Disease | not specified GRACILE syndrome |
Variation | info |
Gene | ZNF142 BCS1L |
CLNDBN | not specified GRACILE syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.219526157C>A; NC_000002.11:g.219526157C>T |
CLNSRC | |
CLNACC | RCV000306913.1, RCV000409388.1, |